Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Hif1an'

537017

Institutional Source

Beutler Lab

Gene Symbol

Hif1an

Ensembl Gene

ENSMUSG00000036450

Gene Name

hypoxia-inducible factor 1, alpha subunit inhibitor

Synonyms

2310046M24Rik, FIH, A830014H24Rik

MMRRC Submission

044981-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44551293-44564713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44551828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 93 (Y93H)

Ref Sequence

ENSEMBL: ENSMUSP00000035326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040455]

AlphaFold

Q8BLR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040455
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035326
Gene: ENSMUSG00000036450
AA Change: Y93H

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
JmjC	144	311	2.56e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele have metabloic, behavioral and cardiopulmonary abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,742,231 (GRCm39)	V543I	probably damaging	Het
Adcy5	A	G	16: 35,118,960 (GRCm39)	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,248,370 (GRCm39)	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,676,820 (GRCm39)	M2004L	probably benign	Het
Anapc1	A	G	2: 128,501,688 (GRCm39)	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,559,532 (GRCm39)	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,565,927 (GRCm39)	L966P	probably benign	Het
Atp8a1	T	C	5: 67,895,794 (GRCm39)	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811 (GRCm38)	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,215,187 (GRCm39)	S252P	possibly damaging	Het
Cep63	A	G	9: 102,503,126 (GRCm39)		probably benign	Het
Chrna5	G	T	9: 54,912,417 (GRCm39)	V302L	probably benign	Het
Crtc2	A	G	3: 90,168,378 (GRCm39)	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,187,149 (GRCm39)	D140A	probably damaging	Het
Exosc8	C	T	3: 54,641,120 (GRCm39)	V39M	probably damaging	Het
Fam135b	A	C	15: 71,335,164 (GRCm39)	S677A	probably damaging	Het
Hrc	T	C	7: 44,985,088 (GRCm39)	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,025,599 (GRCm39)	T139A	possibly damaging	Het
Kdr	T	G	5: 76,129,111 (GRCm39)	R178S	probably benign	Het
Lrrc61	A	C	6: 48,545,366 (GRCm39)	N63T	probably damaging	Het
Mrc1	C	T	2: 14,330,048 (GRCm39)	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,516,760 (GRCm39)	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836 (GRCm38)	I364T	probably benign	Het
Nisch	C	T	14: 30,907,301 (GRCm39)		probably benign	Het
Or2y8	C	A	11: 52,036,179 (GRCm39)	M59I	probably benign	Het
Prrc2a	T	C	17: 35,374,651 (GRCm39)	D1333G	probably damaging	Het
Raly	G	T	2: 154,703,830 (GRCm39)	V134F	probably damaging	Het
Rbm6	T	C	9: 107,729,430 (GRCm39)	Y406C	probably damaging	Het
Robo4	G	C	9: 37,313,363 (GRCm39)	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,359,667 (GRCm39)	S383R	probably benign	Het
Sgtb	T	C	13: 104,247,659 (GRCm39)	W13R	probably benign	Het
Slit3	T	C	11: 35,435,633 (GRCm39)		probably null	Het
Tbc1d32	G	A	10: 56,027,907 (GRCm39)	Q732*	probably null	Het
Tek	T	A	4: 94,693,181 (GRCm39)	C247S	probably damaging	Het
Tmf1	A	T	6: 97,153,799 (GRCm39)	D91E	probably damaging	Het
Usp39	A	G	6: 72,310,140 (GRCm39)	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,598,248 (GRCm39)	C770S	probably damaging	Het
Wdr31	C	T	4: 62,375,802 (GRCm39)	G58R	probably benign	Het
Zfyve26	A	G	12: 79,313,223 (GRCm39)	I54T	probably damaging	Het

Other mutations in Hif1an

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Hif1an	APN	19	44,551,829 (GRCm39)	missense	probably damaging	1.00
R0442:Hif1an	UTSW	19	44,554,451 (GRCm39)	missense	probably damaging	1.00
R0681:Hif1an	UTSW	19	44,551,762 (GRCm39)	missense	probably benign	0.00
R1623:Hif1an	UTSW	19	44,557,862 (GRCm39)	missense	probably damaging	1.00
R1918:Hif1an	UTSW	19	44,559,551 (GRCm39)	critical splice acceptor site	probably null
R3778:Hif1an	UTSW	19	44,557,847 (GRCm39)	missense	probably damaging	1.00
R3779:Hif1an	UTSW	19	44,557,847 (GRCm39)	missense	probably damaging	1.00
R6755:Hif1an	UTSW	19	44,556,891 (GRCm39)	missense	probably damaging	1.00
R9070:Hif1an	UTSW	19	44,551,458 (GRCm39)	missense	probably benign
R9758:Hif1an	UTSW	19	44,558,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGATTGTGGACAGAGGC -3'
(R):5'- TACTGACGGGGCAACTTACC -3'

Sequencing Primer
(F):5'- CAGGAGACACTGTTGTGAATTTGAC -3'
(R):5'- GGGGCAACTTACCGCTCTTC -3'

Posted On

2018-10-18